Lysosomal Storage Diseases 02

Topic: Adult

Created on Thursday, November 20 2008 by jdmiles

Last modified on Thursday, November 20 2008.

 
        A) Lysosomal associated membrane protein-2 (LAMP-2)
 
        B) A-Galactosidase A
 
        C) ß-Glucosidase
 
        D) Arylsulphatase A (galactose-3-sulphatase)
 
        E) Galactocerebrosidase
 

 

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This question was created on November 20, 2008 by jdmiles.
This question was last modified on November 20, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) Lysosomal associated membrane protein-2 (LAMP-2)

This answer is incorrect.

Lysosomal associated membrane protein-2 (LAMP-2) is an enzyme which is deficient in Danon disease. This deficiency is associated with a genetic defect at Xq24-25.  (See References)

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B) a-Galactosidase A

This answer is incorrect.

A-Galactosidase A is an enzyme which is deficient in Fabry disease. This deficiency is associated with a genetic defect at Xq22.  (See References)

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C) ß-Glucosidase

This answer is incorrect.

ß-Glucosidase is an enzyme which is deficient in Gaucher disease. This deficiency is associated with a genetic defect at 1q21.  (See References)

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D) Arylsulphatase A (galactose-3-sulphatase)

This answer is incorrect.

Arylsulphatase A (galactose-3-sulphatase) is an enzyme which is deficient in Metachromatic leukodystrophy. This deficiency is associated with a genetic defect at 22q13.31-qter.  (See References)

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E) Galactocerebrosidase

This answer is correct.

Galactocerebrosidase is an enzyme which is deficient in Krabbe disease. This deficiency is associated with a genetic defect at 14q31.  (See References)

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References:

1. Pastores, G.M., and Kolodny, E.H. (2004). Inborn errors of metabolism of the nervous system. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, 4th Edition. Butterworth Heinemann, Philadelphia. Pp. 1811-1832.

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adult
Lysosomal Storage Diseases 02
Question ID: 11200801
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 11/20/2008
Modified: 11/20/2008
Estimated Permutations: 0